Incidental Mutation 'R7076:Ccser2'
| ID |
549241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser2
|
| Ensembl Gene |
ENSMUSG00000058690 |
| Gene Name |
coiled-coil serine rich 2 |
| Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
| MMRRC Submission |
045171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R7076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36661786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 466
(I466T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000183038]
|
| AlphaFold |
Q3UHI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067700
AA Change: I466T
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: I466T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090024
AA Change: I466T
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: I466T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183038
|
| SMART Domains |
Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
G |
8: 56,324,694 (GRCm39) |
C587R |
probably damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,562,769 (GRCm39) |
T523A |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,038,815 (GRCm39) |
K259M |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,150 (GRCm39) |
N151K |
probably benign |
Het |
| Cars2 |
C |
T |
8: 11,579,649 (GRCm39) |
E270K |
probably damaging |
Het |
| Ccp110 |
C |
A |
7: 118,331,628 (GRCm39) |
P943Q |
probably damaging |
Het |
| Cd164 |
A |
G |
10: 41,399,193 (GRCm39) |
E94G |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,446 (GRCm39) |
T1228I |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,311,091 (GRCm39) |
V3145L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,311,092 (GRCm39) |
K3144N |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,078 (GRCm39) |
V1649A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,569,452 (GRCm39) |
D153E |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,055,853 (GRCm39) |
|
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,449,717 (GRCm39) |
T435A |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,543 (GRCm39) |
I209F |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,540 (GRCm39) |
S111I |
possibly damaging |
Het |
| Gm19965 |
T |
C |
1: 116,749,005 (GRCm39) |
C229R |
|
Het |
| Gpm6a |
C |
T |
8: 55,490,486 (GRCm39) |
T54I |
probably damaging |
Het |
| Gpr171 |
G |
T |
3: 59,005,577 (GRCm39) |
A66E |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,113 (GRCm39) |
D508G |
probably benign |
Het |
| Has1 |
G |
A |
17: 18,064,068 (GRCm39) |
R524C |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv3-8 |
A |
T |
12: 114,286,402 (GRCm39) |
L7Q |
probably damaging |
Het |
| Ints10 |
A |
T |
8: 69,249,403 (GRCm39) |
R78* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,365,257 (GRCm39) |
I903V |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,386,052 (GRCm39) |
|
probably null |
Het |
| Mki67 |
A |
G |
7: 135,307,358 (GRCm39) |
V132A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,999 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Neurog3 |
A |
G |
10: 61,969,359 (GRCm39) |
T40A |
probably benign |
Het |
| Nipsnap3b |
T |
A |
4: 53,021,095 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
G |
A |
4: 48,055,957 (GRCm39) |
V328I |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,278 (GRCm39) |
Y136* |
probably null |
Het |
| Or2d36 |
T |
C |
7: 106,747,236 (GRCm39) |
F238L |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,430 (GRCm39) |
S140C |
probably damaging |
Het |
| Or5af2 |
G |
A |
11: 58,707,990 (GRCm39) |
R52Q |
probably benign |
Het |
| Or5b124 |
G |
T |
19: 13,611,244 (GRCm39) |
M256I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,205 (GRCm39) |
V177D |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,577 (GRCm39) |
L102P |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,917,983 (GRCm39) |
R503Q |
probably damaging |
Het |
| Ppp2r2d |
T |
C |
7: 138,478,326 (GRCm39) |
M321T |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,475,302 (GRCm39) |
Y197C |
probably damaging |
Het |
| Prss32 |
A |
G |
17: 24,072,895 (GRCm39) |
D42G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,768,361 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,591 (GRCm39) |
C234R |
probably damaging |
Het |
| Slc23a4 |
A |
G |
6: 34,933,819 (GRCm39) |
S95P |
probably damaging |
Het |
| Srp14 |
T |
C |
2: 118,309,871 (GRCm39) |
T29A |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,784 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Tfr2 |
A |
T |
5: 137,581,836 (GRCm39) |
Y641F |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,117,766 (GRCm39) |
N27D |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,246,599 (GRCm39) |
D62G |
probably benign |
Het |
| Usp12 |
A |
G |
5: 146,674,562 (GRCm39) |
F347S |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,576,601 (GRCm39) |
L1504Q |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,020,895 (GRCm39) |
D141G |
possibly damaging |
Het |
| Zfp68 |
A |
G |
5: 138,605,201 (GRCm39) |
I374T |
possibly damaging |
Het |
| Zfp758 |
C |
T |
17: 22,594,137 (GRCm39) |
H208Y |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,751 (GRCm39) |
H1104R |
probably benign |
Het |
| Znrf2 |
T |
A |
6: 54,819,680 (GRCm39) |
*75K |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,790,385 (GRCm39) |
V2113A |
probably benign |
Het |
|
| Other mutations in Ccser2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Ccser2
|
APN |
14 |
36,662,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Ccser2
|
APN |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01623:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02322:Ccser2
|
APN |
14 |
36,631,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Ccser2
|
APN |
14 |
36,640,562 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Ccser2
|
APN |
14 |
36,662,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0433:Ccser2
|
UTSW |
14 |
36,640,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Ccser2
|
UTSW |
14 |
36,662,149 (GRCm39) |
missense |
probably benign |
|
|
R0674:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0853:Ccser2
|
UTSW |
14 |
36,662,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0964:Ccser2
|
UTSW |
14 |
36,630,965 (GRCm39) |
splice site |
probably benign |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,271 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2405:Ccser2
|
UTSW |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ccser2
|
UTSW |
14 |
36,601,518 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3846:Ccser2
|
UTSW |
14 |
36,662,245 (GRCm39) |
missense |
probably benign |
|
|
R4298:Ccser2
|
UTSW |
14 |
36,612,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4701:Ccser2
|
UTSW |
14 |
36,660,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Ccser2
|
UTSW |
14 |
36,631,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Ccser2
|
UTSW |
14 |
36,662,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Ccser2
|
UTSW |
14 |
36,662,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ccser2
|
UTSW |
14 |
36,662,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Ccser2
|
UTSW |
14 |
36,601,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5378:Ccser2
|
UTSW |
14 |
36,601,391 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6011:Ccser2
|
UTSW |
14 |
36,601,532 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6057:Ccser2
|
UTSW |
14 |
36,663,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6180:Ccser2
|
UTSW |
14 |
36,662,276 (GRCm39) |
missense |
probably benign |
|
|
R6216:Ccser2
|
UTSW |
14 |
36,662,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Ccser2
|
UTSW |
14 |
36,662,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6266:Ccser2
|
UTSW |
14 |
36,601,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Ccser2
|
UTSW |
14 |
36,601,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Ccser2
|
UTSW |
14 |
36,662,038 (GRCm39) |
missense |
probably benign |
|
|
R7025:Ccser2
|
UTSW |
14 |
36,661,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Ccser2
|
UTSW |
14 |
36,662,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7353:Ccser2
|
UTSW |
14 |
36,663,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7440:Ccser2
|
UTSW |
14 |
36,620,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7509:Ccser2
|
UTSW |
14 |
36,660,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Ccser2
|
UTSW |
14 |
36,601,457 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7770:Ccser2
|
UTSW |
14 |
36,648,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ccser2
|
UTSW |
14 |
36,618,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Ccser2
|
UTSW |
14 |
36,618,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8456:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8805:Ccser2
|
UTSW |
14 |
36,601,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Ccser2
|
UTSW |
14 |
36,601,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Ccser2
|
UTSW |
14 |
36,662,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Ccser2
|
UTSW |
14 |
36,660,737 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9425:Ccser2
|
UTSW |
14 |
36,601,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9502:Ccser2
|
UTSW |
14 |
36,631,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9644:Ccser2
|
UTSW |
14 |
36,601,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0066:Ccser2
|
UTSW |
14 |
36,662,956 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGCAGGACTTGGCATG -3'
(R):5'- TTAGGTACCTGAGCGATGACG -3'
Sequencing Primer
(F):5'- GACTTGGCATGTATAAGACAGCTCC -3'
(R):5'- AGCGATGACGTGGATGATATTTCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation